"Ambry Genetics"[submitter] AND "KCNC1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447617	NM_001112741.2(KCNC1):c.72G>A (p.Ser24=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +3 more	GBenign
Select item 759457	NM_001112741.2(KCNC1):c.102C>A (p.Leu34=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 936320	NM_001112741.2(KCNC1):c.114G>A (p.Ala38=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +2 more	GLikely benign
Select item 653011	NM_001112741.2(KCNC1):c.131G>A (p.Ser44Asn)	KCNC1 (S44N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 589237	NM_001112741.2(KCNC1):c.219G>C (p.Thr73=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 589819	NM_001112741.2(KCNC1):c.240C>A (p.Ala80=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1131581	NM_001112741.2(KCNC1):c.324G>A (p.Thr108=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 661955	NM_001112741.2(KCNC1):c.421G>T (p.Asp141Tyr)	KCNC1 (D141Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 475356	NM_001112741.2(KCNC1):c.494C>T (p.Pro165Leu)	KCNC1 (P165L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GConflicting classifications of pathogenicity
Select item 588275	NM_001112741.2(KCNC1):c.563A>G (p.Tyr188Cys)	KCNC1 (Y188C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 1750059	NM_001112741.2(KCNC1):c.584C>A (p.Ala195Asp)	KCNC1 (A195D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2122475	NM_001112741.2(KCNC1):c.637G>A (p.Glu213Lys)	KCNC1 (E213K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 578014	NM_001112741.2(KCNC1):c.677A>T (p.Asn226Ile)	KCNC1 (N226I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1439052	NM_001112741.2(KCNC1):c.683G>C (p.Arg228Pro)	KCNC1 (R228P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1558764	NM_001112741.2(KCNC1):c.693G>A (p.Thr231=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 475359	NM_001112741.2(KCNC1):c.696A>C (p.Gln232His)	KCNC1 (Q232H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 588160	NM_001112741.2(KCNC1):c.729C>T (p.Ala243=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1758824	NM_001112741.2(KCNC1):c.741C>T (p.Tyr247=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 475360	NM_001112741.2(KCNC1):c.744C>T (p.Ile248=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +3 more	GBenign
Select item 1058747	NM_001112741.2(KCNC1):c.806A>G (p.Asn269Ser)	KCNC1 (N269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1762535	NM_001112741.2(KCNC1):c.822C>A (p.Ile274=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 779590	NM_001112741.2(KCNC1):c.912G>A (p.Lys304=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 542119	NM_001112741.2(KCNC1):c.933C>T (p.Arg311=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 522132	NM_001112741.2(KCNC1):c.950G>A (p.Arg317His)	KCNC1 (R317H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 162519	NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)	KCNC1 (R320H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 475345	NM_001112741.2(KCNC1):c.1017A>C (p.Arg339=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 575029	NM_001112741.2(KCNC1):c.1065C>T (p.Gly355=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2603772	NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)	KCNC1 (G402S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GConflicting classifications of pathogenicity
Select item 475347	NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +3 more	GBenign/Likely benign
Select item 1102822	NM_001112741.2(KCNC1):c.1245G>T (p.Leu415=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 1765725	NM_001112741.2(KCNC1):c.1272C>T (p.Gly424=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 475348	NM_001112741.2(KCNC1):c.1287C>A (p.Ala429=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +2 more	GBenign/Likely benign
Select item 392871	NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met)	KCNC1 (V432M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 218659	NM_001112741.2(KCNC1):c.1426G>A (p.Val476Ile)	KCNC1 (V476I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 708688	NM_001112741.2(KCNC1):c.1451A>G (p.Gln484Arg)	KCNC1 (Q484R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1160493	NM_001112741.2(KCNC1):c.1467G>A (p.Pro489=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 590165	NM_001112741.2(KCNC1):c.1585G>A (p.Asp529Asn)	KCNC1 (D529N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 580602	NM_001112741.2(KCNC1):c.1619G>A (p.Arg540His)	KCNC1 (R540H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1041222	NM_001112741.2(KCNC1):c.1621G>A (p.Glu541Lys)	KCNC1 (E541K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 542104	NM_001112741.2(KCNC1):c.1659G>T (p.Glu553Asp)	KCNC1 (E553D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 567831	NM_001112741.2(KCNC1):c.1673C>G (p.Pro558Arg)	KCNC1 (P558R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1779210	NM_001112741.2(KCNC1):c.1741G>T (p.Ala581Ser)	KCNC1 (A581S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 42